GM11853 TAY-SACHS DISEASE; TSD | HEXOSAMINIDASE A; HEXA Skin, Thigh Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM11853 TAY-SACHS DISEASE; TSD | HEXOSAMINIDASE A; HEXA Skin, Thigh Cell Line
泰-萨克斯病； TSD |氨基己糖苷酶A；六角形细胞株
Description描述：Clinically affected; pregnancy complicated by vaginal bleeding at 10 weeks, and by brief episode of false pregnancy at 6 months; uncomplicated full-term birth; hyperbilirubinemia as neonate; history of 锟絙ehavioral锟?problems (colic, disinterest in toys, crying, rarely smiling, demanding parents锟?attention); examination at 8 months of age revealed bilateral macular pallor with prominence of fovea centralis (cherry red spots), poor visual fixation, abnormal startle response, decreased language, and decreased motor development (decreased tone in upper extremities, increased tone at both ankles with sustained clonus); progressive encephalopathy; developmental milestones include: rolled from front to back at 3 months (did not roll from back to front), sat without support at 6.5 months (unable to get to sitting position by himself), able to hold objects in hands (does not actively reach for objects); deficient hexosaminidase A activity in blood; donor subject is homozygous for a 4 base pair duplication in exon 11 of the HEXA gene, c.1274_1277dupTATC (p.Tyr427Ilefs), resulting in a premature termination signal; see GM11852 B-lymphocyte and GM23937 iPSC.
Category分类：Fibroblast
ID编号:NTCC®-GM11853
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: White
Age年龄:1 YR
Gender性别:Male
Cell Type细胞类型: TAY-SACHS DISEASE; TSD | HEXOSAMINIDASE A; HEXA
Affected State:Yes
Product:Fibroblast
Gene:HEXA
Mutations突变:c.1274_1277dupTATC
Ethnicity:ASHKENAZI
Family:1448
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
References参考文献:

Supplier供应商:BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
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